Mazza C - Search Results

1

Clinical heterogeneity and diagnostic delay of autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy syndrome.

Mazza C, Buzi F, Ortolani F, Vitali A, Notarangelo LD, Weber G, Bacchetta R, Soresina A, Lougaris V, Greggio NA, Taddio A, Pasic S, de Vroede M, Pac M, Kilic SS, Ozden S, Rusconi R, Martino S, Capalbo D, Salerno M, Pignata C, Radetti G, Maggiore G, Plebani A, Notarangelo LD, Badolato R. Mazza C, et al. Clin Immunol. 2011 Apr;139(1):6-11. doi: 10.1016/j.clim.2010.12.021. Epub 2011 Feb 3. Clin Immunol. 2011. PMID: 21295522

2

Combined immunodeficiencies due to defects in signal transduction: defects of the gammac-JAK3 signaling pathway as a model.

Notarangelo LD, Giliani S, Mella P, Schumacher RF, Mazza C, Savoldi G, Rodriguez-Pérez C, Badolato R, Mazzolari E, Porta F, Candotti F, Ugazio AG. Notarangelo LD, et al. Among authors: mazza c. Immunobiology. 2000 Aug;202(2):106-19. doi: 10.1016/s0171-2985(00)80058-3. Immunobiology. 2000. PMID: 10993286 Review.

3

Of genes and phenotypes: the immunological and molecular spectrum of combined immune deficiency. Defects of the gamma(c)-JAK3 signaling pathway as a model.

Notarangelo LD, Giliani S, Mazza C, Mella P, Savoldi G, Rodriguez-Pérez C, Mazzolari E, Fiorini M, Duse M, Plebani A, Ugazio AG, Vihinen M, Candotti F, Schumacher RF. Notarangelo LD, et al. Among authors: mazza c. Immunol Rev. 2000 Dec;178:39-48. doi: 10.1034/j.1600-065x.2000.17812.x. Immunol Rev. 2000. PMID: 11213805 Review.

4

Missense mutations of the WASP gene cause intermittent X-linked thrombocytopenia.

Notarangelo LD, Mazza C, Giliani S, D'Aria C, Gandellini F, Ravelli C, Locatelli MG, Nelson DL, Ochs HD, Notarangelo LD. Notarangelo LD, et al. Among authors: mazza c. Blood. 2002 Mar 15;99(6):2268-9. doi: 10.1182/blood.v99.6.2268. Blood. 2002. PMID: 11877312 Free article.

5

Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy syndrome: time to review diagnostic criteria?

Buzi F, Badolato R, Mazza C, Giliani S, Notarangelo LD, Radetti G, Plebani A, Notarangelo LD. Buzi F, et al. Among authors: mazza c. J Clin Endocrinol Metab. 2003 Jul;88(7):3146-8. doi: 10.1210/jc.2002-021495. J Clin Endocrinol Metab. 2003. PMID: 12843157

6

AIRE and immunological tolerance: insights from the study of autoimmune polyendocrinopathy candidiasis and ectodermal dystrophy.

Notarangelo LD, Mazza C, Forino C, Mazzolari E, Buzi F. Notarangelo LD, et al. Among authors: mazza c. Curr Opin Allergy Clin Immunol. 2004 Dec;4(6):491-6. doi: 10.1097/00130832-200412000-00004. Curr Opin Allergy Clin Immunol. 2004. PMID: 15640689 Review.

7

Posterior reversible encephalopathy syndrome in a child during an accelerated phase of a severe APECED phenotype due to an uncommon mutation of AIRE.

Capalbo D, Elefante A, Spagnuolo MI, Mazza C, Betterle C, Pignata C, Salerno M. Capalbo D, et al. Among authors: mazza c. Clin Endocrinol (Oxf). 2008 Sep;69(3):511-3. doi: 10.1111/j.1365-2265.2008.03206.x. Epub 2008 Jan 31. Clin Endocrinol (Oxf). 2008. PMID: 18248641 No abstract available.

8

Impaired NK-cell migration in WAS/XLT patients: role of Cdc42/WASp pathway in the control of chemokine-induced beta2 integrin high-affinity state.

Stabile H, Carlino C, Mazza C, Giliani S, Morrone S, Notarangelo LD, Notarangelo LD, Santoni A, Gismondi A. Stabile H, et al. Among authors: mazza c. Blood. 2010 Apr 8;115(14):2818-26. doi: 10.1182/blood-2009-07-235804. Epub 2010 Feb 3. Blood. 2010. PMID: 20130240 Free PMC article.

9

The Wiskott-Aldrich syndrome: from genotype-phenotype correlation to treatment.

Moratto D, Giliani S, Notarangelo LD, Mazza C, Mazzolari E, Notarangelo LD. Moratto D, et al. Among authors: mazza c. Expert Rev Clin Immunol. 2007 Sep;3(5):813-24. doi: 10.1586/1744666X.3.5.813. Expert Rev Clin Immunol. 2007. PMID: 20477031

10

PTX3 genetic variations affect the risk of Pseudomonas aeruginosa airway colonization in cystic fibrosis patients.

Chiarini M, Sabelli C, Melotti P, Garlanda C, Savoldi G, Mazza C, Padoan R, Plebani A, Mantovani A, Notarangelo LD, Assael BM, Badolato R. Chiarini M, et al. Among authors: mazza c. Genes Immun. 2010 Dec;11(8):665-70. doi: 10.1038/gene.2010.41. Epub 2010 Oct 7. Genes Immun. 2010. PMID: 20927127 Free PMC article.

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